HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501257.1:p.[Val485_Ala492delinsSerArgSerMetGluSerArg;Gln494_Thr506del;Thr508_Cys510delinsArg;Ala512_Pro514delinsArg] |
CA2586966705
ENST00000673903.1:c.1452del
|